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1دورية أكاديمية
المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: van Eeghen, A. M., Gaasterland, C. M.W., Haneveld, M. J.Klein, Stemkens, D., Fernández-Fructuoso, José Ramón, Maruani, Anna, Hadzsiev, K., Hadzsiev, Kinga, van Balkom, Ingrid D.C., Alhambra, Norma, Anderlid, Britt Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Kuiper, Els, Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Grabrucker, Andreas M., Gunnarson, Cecilia, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., van Ravenswaaij-Arts, Conny M.A., Walinga, Margreet, Landlust, Annemiek M.
المصدر: van Eeghen , A M , European Phelan-McDermid syndrome guideline consortium , ERN ITHACA Guideline Working Group , Gaasterland , C M W , Haneveld , M J K , van Eeghen , A M , van Eeghen , A M , van Eeghen , A M , van Eeghen , A M , Stemkens , D , Fernández-Fructuoso , J R , Maruani , A , Maruani , A , Maruani , A , Hadzsiev , K , Hadzsiev , K , van Balkom , I D C , van Balkom , I D C , van Balkom ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104747Test
https://pure.eur.nl/en/publications/306e860d-f7c8-4376-b294-e44ab22d27c0Test
https://pure.eur.nl/ws/files/97358265/1-s2.0-S1769721223000538-main.pdfTest
http://www.scopus.com/inward/record.url?scp=85162852499&partnerID=8YFLogxKTest -
3دورية أكاديمية
المصدر: the European Phelan-McDermid syndrome consortium , Walinga , M , Jesse , S , Alhambra , N & Van Buggenhout , G 2023 , ' Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome ' , European journal of medical genetics , vol. 66 , no. 5 , 104726 . https://doi.org/10.1016/j.ejmg.2023.104726Test
مصطلحات موضوعية: Guideline, Pain, Phelan-McDermid syndrome, Sensory dysfunction, Sensory processing disorder, SHANK3
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104726Test
https://hdl.handle.net/11370/65ac9887-2153-4d4e-abd8-41e118b3a28eTest
https://research.rug.nl/en/publications/65ac9887-2153-4d4e-abd8-41e118b3a28eTest
https://pure.rug.nl/ws/files/644819394/1_s2.0_S1769721223000320_main.pdfTest
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